Review Article
From the Mediterranean to the Sea of Japan: The Transcontinental Odyssey of Autoinflammatory Diseases
Table 2
The clinical features of mevalonate kinase deficiency.
| Gene | MVK (12q24) | Inheritance | Autosomal recessive | Protein encoded | Mevalonate kinase | OMIM | 260920 (610377 for mevalonic aciduria) | Onset | First infancy | Fever | Over 40°C Preceded by chills and malaise Lasting 4–7 days | Gastrointestinal signs | Severe abdominal pain, vomiting, and diarrhoea | Rash features | Macular, papular, morbilliform, nodular, and urticarial, but also resembling Henoch-Schönlein purpura, erythema nodosum, or erythema elevatum diutinum | Mucosal signs | Oral and/or vaginal aphthous ulcers in 50% of patients | Articular signs | Symmetrical arthralgias, nonerosive arthritides in large joints | Lymph node involvement | Cervical or diffuse Bilateral Painful | Visceral involvement | Hepatosplenomegaly | Neurologic involvement | Nonspecific headache | Serum marker in the interfebrile phase | IgD above 100 IU/mL (in at least 80% of patients) | Urinary marker during febrile attacks | Increased excretion of mevalonic acid | Treatment | Anti-inflammatory drugs, corticosteroids, and on-demand interleukin-1 antagonists |
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